If you are a doctor or other qualified health care professional, you should not offer any medical advice or treatment on our Sites, nor should you allow the content of our Sites to substitute for your own medical judgment. Please thoroughly review the information provided on our Sites before deciding whether any of the products, services, or treatments therein are right for you or others.

contact us

have a question, issue or just some feedback for us? we're here for you.

what can we help you with?

let us know how we can help

enter the code to confirm you're not a robot

DISCLAIMER

The information and materials accessed through or made available for use on any of our Sites, including, any information about diseases, conditions, treatments, or medicines, are for informational purposes only. The Content is not intended to be and is not a substitute for professional medical advice, diagnosis, or treatment, and your participation on our Sites does not create a healthcare professional-patient relationship. You should consult a doctor or other qualified health care professional regarding any questions you have about your health or before making any decisions related to your health or wellness. Call your doctor or 911 immediately if you think you may have a medical emergency.

Duchenne muscular dystrophy (DMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation, is the cause of DMD in approximately 10-15% of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2a extension trial that will evaluate the long-term safety of ataluren in boys with nonsense mutation DMD, as determined by adverse events and laboratory abnormalities. The study will also assess changes in walking, muscle function, strength, and other important clinical and laboratory measures.

intervention:
Ataluren

mechanism of action:
Stop codon read through to promote dystrophin production

results:
https://clinicaltrials.gov/ct2/show/results/NCT00759876

study details

start date: July 2008

estimated completion: May 2010

phase of development:
Phase 2

size / enrollment: 36

study description:
This Phase 2a, multicenter, open-label safety and efficacy study will be performed at 3 sites in the United States. The study will enroll up to 38 subjects with nonsense mutation Duchenne muscular dystrophy who participated in a previous Phase 2a study of ataluren (Protocol Number PTC124-GD-004-DMD). Subjects will receive study drug 3 times per day (at breakfast, lunch, and dinner) for approximately 96 weeks (approximately 2 years). Study assessments will be performed at clinic visits during screening, every 6 weeks for the first 24 weeks, and then every 12 weeks until the end of the study.
Additional safety laboratory testing, which may be performed at the investigational site or at an accredited local laboratory or clinic, is required every 3 weeks for the first 24 weeks and then every 6 weeks from Week 24 to Week 48. Subjects will have a biceps muscle biopsy before ataluren treatment and again after 24 weeks of ataluren treatment to evaluate changes in muscle dystrophin expression.
An evaluation of the effects of ataluren on corticosteroid pharmacokinetics will be performed. Associated with this ataluren clinical trial is a substudy that will use magnetic resonance evaluations to assess changes in the composition of muscles of the legs.